SRD5A3 defective congenital disorder of glycosylation: clinical utility gene card

Jaeken, Jaak; Lefeber, Dirk; Matthijs, Gert

doi:10.1038/s41431-020-0647-3

Cited by 17 publications

(18 citation statements)

References 19 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The main disease characteristics include ocular abnormalities (optic nerve hypoplasia/atrophy, iris and optic nerve coloboma, congenital cataract, or glaucoma), intellectual disability, nystagmus, hypotonia, ataxia, and/or ichthyosiform skin lesions (9). Cerebellar or vermian hypoplasia is seen in roughly fifty percent of cases; liver enzyme and coagulation abnormalities, and microcytic anemia, kyphosis, congenital heart defects, hypertrichosis, and retinitis pigmentosa have also been reported (1,3). Recent years have witnessed a rise in the number of detected cases considering the emergence of nextgeneration sequencing (2).…”

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

A rare case of SRD5A3-CDG in a patient with ataxia and telangiectasia: A case report

nabavizadeh

Noeiaghdam

Johari

et al. 2022

Preprint

View full text Add to dashboard Cite

SRD5A3-CDG (MIM 612379) is an extremely rare congenital disease, with only 38 cases having been reported. Common manifestations are developmental delay, intellectual disability, ophthalmological abnormalities, cerebellar abnormalities, ataxia, and hypotonia. Here, we discuss a seven-year-old boy with SRD5A3-CDG (homozygous variant c.57G>A [p.Trp19Ter]), featuring the unprecedented finding of telangiectasia.

show abstract

Section: Discussionmentioning

confidence: 99%

“…Only 38 cases of this disease have been reported worldwide, presenting with a highly variable phenotype. While ataxia is mentioned in just under half of these cases, telangiectasia is yet to be reported (2,3).…”

Section: Introductionmentioning

confidence: 99%

A rare case of SRD5A3-CDG in a patient with ataxia and telangiectasia: A case report

nabavizadeh

Noeiaghdam

Johari

et al. 2022

Preprint

View full text Add to dashboard Cite

show abstract

“…SRD5A3-CDG is an ultrarare CDG diagnosis with 38 cases reported so far ( Jaeken et al, 2020 ). The clinical spectrum of SRD5A3-CDG is still evolving, and the diagnosis of patients is often only established by untargeted extended mutational screening.…”

Section: Discussionmentioning

confidence: 99%

SRD5A3-CDG: Emerging Phenotypic Features of an Ultrarare CDG Subtype

et al. 2021

View full text Add to dashboard Cite

Background: SRD5A3-CDG is a rare N-glycosylation defect caused by steroid 5 alpha reductase type 3 deficiency. Its key feature is an early severe visual impairment with variable ocular anomalies often leading to diagnosis. Additional symptoms are still poorly defined. In this case study, we discuss 11 genetically confirmed cases, and report on emerging features involving other systems in addition to the eye phenotype.Methods: In total, 11 SRD5A3-CDG patients in five sets of sibships were included in the study. Data on 9 of 11 patients are as of yet unpublished. Patients’ results on biochemical and genetic investigations and on in-depth phenotyping are presented.Results: Key diagnostic features of SRD5A3-CDG are ophthalmological abnormalities with early-onset retinal dystrophy and optic nerve hypoplasia. SRD5A3-CDG is also characterized by variable neurological symptoms including intellectual disability, ataxia, and hypotonia. Furthermore, ichthyosiform skin lesions, joint laxity, and scoliosis have been observed in our cohort. We also report additional findings including dystonia, anxiety disorder, gastrointestinal symptoms, and MRI findings of small basal ganglia and mal-rotated hippocampus, whereas previous publications described dysmorphic features as a common finding in SRD5A3, which could not be confirmed in our patient cohort.Conclusion: The detailed description of the phenotype of this large cohort of patients with SRD5A3-CDG highlights that the key clinical diagnostic features of SRD5A3-CDG are an early onset form of ophthalmological problems in patients with a multisystem disorder with variable symptoms evolving over time. This should aid earlier diagnosis and confirms the need for long-time follow-up of patients.

show abstract

“…Studies have shown that it can promote the occurrence of prostatic hyperplasia and prostate cancer by regulating androgen metabolism. Besides, SRD5A3 reduces polyprenols to polyterpenoids and participates in the synthesis of N-glycosylated oligosaccharide precursors, leading to congenital glycosylation disorders in patients [13,14]. What's more, SRD5A3 is involved in the occurrence of various malignant biological behaviors of human tumors, and is a key gene in the development of tumors.…”

Section: Discussionmentioning

confidence: 99%

High Expression of SRD5A3 in Human Hepatocellular Carcinoma (HCC) Predicts Poor Prognosis: A Study Based on TCGA Data

Xue

Yang

Jiang

2021

Preprint

View full text Add to dashboard Cite

Background: Hepatocellular carcinoma (HCC) is the fourth leading cause of cancer-related death worldwide. Steroid 5 alpha-reductase 3 (SRD5A3) was reported to be up-regulated in many types of cancer. However, its expression and role in HCC remains to be elucidated. We aim to evaluate the significance of SRD5A3 expression in HCC by using analysis of a public dataset from The Cancer Genome Atlas (TCGA).Methods: The relationship between clinical pathologic features and SRD5A3 were analyzed with the Kolmogorov‐Smirnov test and the logistic regression. Cox regression and the Kaplan-Meier method were used to assess the clinicopathologic characteristics associated with overall survival (OS) in TCGA patients. In addition, GSEA was used to predict potential hallmarks associated with different expression of SRD5A3 on transcriptional sequences from TCGA database.Results: SRD5A3 was highly expressed in HCC tumor tissue compared to normal tissue. A total of 184 upregulated DEGs (differentially expressed genes) and 58 downregulated DEGs were identified between high expression and low expression of SRD5A3. Among them, 22 hub genes mainly belonging to the keratin and MUC family demonstrated by connectivity degree in the PPI network were screened out. Kaplan-Meier method showed that HCC patients in the high SRD5A3 expression group had poorer overall survival (OS, HR=2.26(1.58-3.24), p<0.001). In addition, cell cycle mitotic, cell cycle checkpoints, mitotic nuclear division, Q-glycan processing, protein O-linked glycosylation were differentially enriched in the high SRD5A3 expression phenotype pathway. In addition, SRD5A3 expression level has significant correlations with infiltrating levels of Th17 (R = -0.238, p < 0.001), Cytotoxic cells (R = -0.234, p < 0.001) and Th2 cells (R = 0.258, p < 0.001) in HCC.Conclusions: High expression of SRD5A3 was significantly correlated with poor prognosis in HCC patients. It may be a potential biomarker in HCC.

show abstract

SRD5A3 defective congenital disorder of glycosylation: clinical utility gene card

Cited by 17 publications

References 19 publications

A rare case of SRD5A3-CDG in a patient with ataxia and telangiectasia: A case report

A rare case of SRD5A3-CDG in a patient with ataxia and telangiectasia: A case report

SRD5A3-CDG: Emerging Phenotypic Features of an Ultrarare CDG Subtype

High Expression of SRD5A3 in Human Hepatocellular Carcinoma (HCC) Predicts Poor Prognosis: A Study Based on TCGA Data

Contact Info

Product

Resources

About